A cure for Rett syndrome? How one mom's battle may put an end to the disease

2015-10-21T01:12:25.000Z

Linda Carroll

TODAY

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One mother’s mission to find a cure for her daughter’s debilitating brain disorder may be paying off. Scientists now say that a cure for Rett Syndrome, which strikes mostly girls, may be just around the corner.

Monica Coenraads’ daughter, Chelsea, has been living with Rett for 18 years.

Children like Chelsea appear to grow and develop normally at first. Then, at some point between three months and three years of age, they stop developing and often lose some of the skills they’ve acquired. Some children lose the ability to talk and control their hands. Some develop balance and breathing problems. Many don’t live past middle age.

Unwilling to sit on the sidelines waiting for someone to find a cure for the syndrome, Coenraads created the Rett Syndrome Research Trust and she's been working with scientists for the past 16 years. During that time she’s raised a remarkable $44 million to aid in the search for a cure.

Because of that animal research, scientists have discovered an experimental drug that might alleviate the syndrome’s symptoms. The next step is to test the safety and efficacy of the drug in clinical trials.

In the meantime Coenraads does her best to work around the syndrome with her own daughter.

For example, because Chelsea is unable to speak, Coenraads had to come up with a creative way to communicate.

“We use yes-no flashcards,” Coenraads explains to TODAY’s Janet Shamlian. Coenraads holds up pictures to ask questions about what Chelsea might need or want. She then prompts her daughter to answer with cards showing “yes” or “no”’

Despite their setbacks, Coenraads is thankful for Chelsea. “She’s the heart and soul of our family,” Coenraads says. “She’s really the glue that holds us all together. We would be such different people without her.”

'How is my daughter facing something like this?'

Coenraads’ experience offers hope to parents like Stephanie and Andy Bohn who are now embarking on the same journey. The Bohns have two daughters, Lucie, 4, and Sadie who is 1 ½ years old and has been diagnosed with Rett.

At first, Sadie seemed to be developing like any other baby. Then when she was about 7 months old, she started to regress. “She wasn’t moving and she wasn’t reaching out for toys with as much interest, if at all,” Stephanie Bohn remembers. “But she was very happy all the time. So no one, including myself, ever thought anything was wrong. She was just taking her time. But I eventually knew because she wasn’t hitting those gross motor milestones.”

A genetic test revealed that Sadie had Rett, which affects one in every 10,000 to 15,000 girls. Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next.

Bohn remembers her shock when she first researched the syndrome.

“There’s not a word to describe it,” she says. “I lost my balance and I fell to the floor. And I’m staring at my daughter in her crib as I’m reading this on my computer thinking this does not add up. Because if that were true, then the quality of Sadie’s life would never be close to what we dreamed it would be. How is my daughter facing something like this?”

Sadie has developed few of the skills you’d expect in a toddler.

“She cannot sit up on her own,” Bohn says. “She cannot crawl. She cannot walk. She can utter a few words but some of them are a little incomprehensible, so we don’t know what she wants. She can feed herself, but she might not always be able to.”

Though Sadie has some control over her hands, she can’t raise her arms.

“I want nothing more than for Sadie to hug me,” Bohn says, her voice cracking. “But she can’t lift her arms to wrap them around my neck.”

Bohn looks at what Coenraads has accomplished with awe.

“I’m amazed that she has a daughter with such a severe case of Rett and that she’s done what she’s done basically as a one woman show,” Bohn says. “I was thinking to myself after speaking with Monica, ‘What’s my part in all of this?’”

The answer: Bohn is launching a foundation called A Future Without Retts Starts Today.

“If there’s a cure, it’s most likely going to be reversible,” Bohn says. “And Sadie has a chance to have a normal childhood. I made a promise to her to do everything I can, to not stop until a cure is found and that is what I will do.”